Preferred Name

Ectrodactyly
Synonyms
Definitions

A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities.

ID

http://purl.obolibrary.org/obo/NCIT_C75000

code

C75000

Contributing_Source

NICHD

definition

A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities.

in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C99147

label

Ectrodactyly

Legacy Concept Name

Split_Hand_Foot_Malformation

Preferred_Name

Ectrodactyly

prefixIRI

NCIT:C75000

prefLabel

Ectrodactyly

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0265554

subClassOf

http://purl.obolibrary.org/obo/NCIT_C53543

http://purl.obolibrary.org/obo/NCIT_C28193

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